Potocki-Shaffer Syndrome, A deletion on Chromosome 11p11.2

PSS is an extremely rare genetic condition with little in the way of medical study or formal documentation and it carries a broad range of symptoms. Within a small group of families we have uncovered anecdotal similarities in our stories and expanded our view of the effects of the syndrome. We hope this information will provide a helpful starting point for carers and families alike.

I had a normal pregnancy until right around 22 weeks- we were told Brady may have trisomy 18 and the specialist told us it was "incompatible with life." We immediately did an ultrasound which came back (after a long wait over the Christmas holiday) that all was normal. I didn't give it another thought - I was just so thankful.

After a very long struggle with infertility due to endometriosis becoming pregnant was a huge surprise! Having just moved half way across the world away from friends and family the news was certainly daunting but of course extremely exciting. At 35 weeks I went into labor, he was not crying when he was born and whisked away into the NICU but thankfully after a few hours he was brought back to me and we were home the next day...

After a bit of a struggle with infertility, we were blissfully enjoying my pregnancy as we awaited the birth of our second child. I had a normal pregnancy until the 20-week ultrasound. We expected to find out the gender of our child and hear that our baby was healthy, and all was well. Instead we found out our baby girl had three soft markers possibly indicating a chromosomal abnormality of some kind...

This website is a starting point for information about Potocki-Shaffer Syndrome and connecting families whose lives are effected by it. The content of this site is for information purposes only. All information is provided in good faith and nothing contained on this web site should be construed as medical advice.